Daniel MacArthur | Director
Garvan Institute of Medical Research

Professor Daniel MacArthur is a human genomicist with over two decades of experience at the interface between human biomedicine, large-scale genomics, and data science. From 2012-2019 he served as Co-Director of the Medical and Population Genetics Program at the Broad Institute of MIT and Harvard. During this period he co-directed the Broad Institute's Centre for Mendelian Genomics, overseeing the generation and analysis of genomic data from over 10,000 individuals from rare disease families, and also led the development of the Genome Aggregation Database (gnomAD), the largest and most widely-used data set of human exome and genome sequence data, which has collated data from over 800,000 sequenced individuals. In 2020 he returned to Australia as the inaugural Director of the Centre for Population Genomics, a joint initiative between the Garvan Institute of Medical Research in Sydney and Murdoch Children's Research Institute in Melbourne. His team leads a number of national programs including OurDNA, which is working with under-represented Australian communities from the Pacific, South-East Asia, the Middle East, and Africa to build a long-term genomic resource spanning over 10,000 diverse individuals. He also leads the Australian Alliance for Secure Genomics and AI in Rare Disease (AASGARD) consortium, which works with research and clinical collaborators to test and deploy new analytical approaches for the diagnosis of severe genetic disorders.